先天性婴儿原始黏液样间叶性肿瘤术后复发1例并文献复习

One case of congenital primitive myxoid mesenchymal tumor of infancy relapse and literature review

目的:报告1例先天性原始黏液样间叶性肿瘤(primitive myxoid mesenchymal tumor of infancy,PMMTI),提高该病的认识。方法:回顾性分析1例先天性PMMTI患儿临床资料,并检索中英文数据库,对相关文献分析总结,归纳其临床特点。结果:本例患儿第1次行背部肿物切除术,术后病理明确诊断,未行基因检测,术后3个月复查原切口周再次发现背部肿物,并增长速度快,于术后4个月再次行背部肿物扩大切除术,病理提示瘤细胞较之前密度增高,异型性明显,核分裂易见,行BCOR基因荧光原位杂交检测阴性,未化疗,术后回访2年无瘤生存。检索文献筛选出先天性PMMTI患儿5例,结合本例,共6例纳入研究。其中,男3例,女3例,肿瘤平均直径7.1 cm,均行手术治疗,术后病理检查镜下均可见幼稚间叶细胞并均结合免疫组化诊断。3例术后复发再手术,均未行化疗,获得随访4例,2例短期内死亡,2例预后良好。结论:PMMTI是一种罕见的婴幼儿肉瘤,病理学结合免疫组化和分子生物学检测确诊,治疗方式以手术为主,具有高复发性,对于复发的先天性PMMTI术后建议化疗,PMMTI靶向治疗有待突破。

Objective:A case of primitive myxoid mesenchymal tumor of infancy(PMMTI)was reported to improve the clinical diagnosis and treatment of the disease.Method:The clinical data of one child with congenital PMMTI were retrospectively analyzed,and relevant literature was searched in Chinese and English databases.These contents were analyzed and summarized to conclude the disease clinical characteristics.Results:In this case,the patient underwent the first resection of back mass,and the postoperative pathological diagnosis was clear,but no genetic test was performed.The tumor was found again around the original incision at 3 months after the first surgery,and the growth rate was fast.Therefore,the back tumor performed again extended resection at 4 months after the first surgery.The postoperative pathology indicated that the tumor cells were more dense than before,with obvious atypia and easy to see mitosis.Then,BCOR gene fluorescence in situ hybridization test showed negative results.The child did not receive chemotherapy,and no tumor survived about 2 years after follow-up.Literature search screened out 5 children with congenital PMMTI,combined with this case,a total of 6 cases were included in the study.Among them,3 cases were males and 3 cases were females.The average diameter of tumors was 7.1 cm.All of them underwent surgical treatment.Under the postoperative pathological examination microscope,immature mesenchymal cells were found by combining with immunohistochemistry.3 cases recurred and underwent surgery after surgery,all of which did not receive chemotherapy.4 cases were followed up,2 cases died in the short term,and 2 cases had good prognosis.Conclusion:PMMTI is a rare infantile sarcoma,which is confirmed by pathology combined with immunohistochemical and molecular biological detection.The treatment is mainly surgical,with high recurrence.Postoperative chemotherapy is recommended for recurrent congenital PMMTI,and the targeted therapy of PMMTI needs breakthrough.